HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45990521_45990525del , CM000683.2:g.45990521_45990525del | GRCh38 |
NC_000021.8:g.47410435_47410439del , CM000683.1:g.47410435_47410439del | GRCh37 |
NC_000021.7:g.46234863_46234867del | NCBI36 |
NG_008674.1:g.13773_13777del , LRG_475:g.13773_13777del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.1002+99_1002+103del MANE Select | ENSP00000355180.3:n.1002+99_1002+103del | |
ENST00000361866.7:c.1002+99_1002+103del | ENSP00000355180.3:n.1002+99_1002+103del | |
ENST00000612273.1:c.1002+99_1002+103del | ENSP00000483630.1:n.1002+99_1002+103del | |
NM_001848.2:c.1002+99_1002+103del , LRG_475t1:c.1002+99_1002+103del | NP_001839.2:n.1002+99_1002+103del | |
NM_001848.3:c.1002+99_1002+103del MANE Select | NP_001839.2:n.1002+99_1002+103del |